ClinVar Miner

List of variants reported as uncertain significance for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome

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ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.3790G>A (p.Ala1264Thr) rs141285034 0.00010
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.272A>G (p.His91Arg) rs768107926 0.00006
NM_000168.6(GLI3):c.1242+6del rs772496012 0.00004
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg) rs374123528 0.00003
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val) rs771132000 0.00001
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln) rs745809543 0.00001
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile) rs1283743237 0.00001
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) rs750790986 0.00001
NM_000168.6(GLI3):c.3133G>A (p.Val1045Met) rs1166711228 0.00001
NM_000168.6(GLI3):c.3586G>C (p.Gly1196Arg) rs376413286 0.00001
NM_000168.6(GLI3):c.4148A>G (p.Tyr1383Cys) rs894551472 0.00001
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) rs373003816 0.00001
NC_000007.13:g.(?_42262709)_(42262852_?)dup
NC_000007.14:g.(?_42048471)_(42148488_?)del
NM_000168.6(GLI3):c.1058C>T (p.Ala353Val)
NM_000168.6(GLI3):c.1123G>C (p.Gly375Arg)
NM_000168.6(GLI3):c.1128C>G (p.His376Gln)
NM_000168.6(GLI3):c.1177A>G (p.Ile393Val) rs1380213537
NM_000168.6(GLI3):c.1204C>G (p.Pro402Ala)
NM_000168.6(GLI3):c.1217G>C (p.Ser406Thr)
NM_000168.6(GLI3):c.12G>T (p.Gln4His)
NM_000168.6(GLI3):c.1327C>G (p.Leu443Val)
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.1348G>T (p.Gly450Trp)
NM_000168.6(GLI3):c.1353G>T (p.Gln451His)
NM_000168.6(GLI3):c.13T>C (p.Ser5Pro)
NM_000168.6(GLI3):c.1415A>G (p.Gln472Arg)
NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser)
NM_000168.6(GLI3):c.1470G>C (p.Glu490Asp)
NM_000168.6(GLI3):c.1497+5G>A rs2128730749
NM_000168.6(GLI3):c.1596G>A (p.Met532Ile)
NM_000168.6(GLI3):c.1613G>A (p.Arg538Lys) rs2128712790
NM_000168.6(GLI3):c.1618C>G (p.His540Asp)
NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys) rs121917711
NM_000168.6(GLI3):c.1647+5G>T
NM_000168.6(GLI3):c.1777C>G (p.Arg593Gly) rs1787545027
NM_000168.6(GLI3):c.1778G>A (p.Arg593His)
NM_000168.6(GLI3):c.17A>C (p.His6Pro)
NM_000168.6(GLI3):c.1835C>T (p.Pro612Leu)
NM_000168.6(GLI3):c.1849_1850insTTA (p.Arg617delinsLeuSer)
NM_000168.6(GLI3):c.1919A>G (p.Lys640Arg) rs1583741915
NM_000168.6(GLI3):c.1930G>A (p.Gly644Arg) rs917006091
NM_000168.6(GLI3):c.1943C>G (p.Pro648Arg)
NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile) rs979364849
NM_000168.6(GLI3):c.2098C>T (p.Pro700Ser) rs1583741492
NM_000168.6(GLI3):c.2103+5G>A
NM_000168.6(GLI3):c.2264C>T (p.Ser755Phe)
NM_000168.6(GLI3):c.229A>G (p.Thr77Ala)
NM_000168.6(GLI3):c.2300G>A (p.Arg767Lys)
NM_000168.6(GLI3):c.2326G>A (p.Glu776Lys)
NM_000168.6(GLI3):c.2386A>C (p.Ile796Leu)
NM_000168.6(GLI3):c.2386A>G (p.Ile796Val)
NM_000168.6(GLI3):c.2390T>C (p.Leu797Pro)
NM_000168.6(GLI3):c.2395C>A (p.Pro799Thr)
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)
NM_000168.6(GLI3):c.2416C>T (p.Pro806Ser)
NM_000168.6(GLI3):c.2434A>T (p.Thr812Ser)
NM_000168.6(GLI3):c.2506G>A (p.Val836Met)
NM_000168.6(GLI3):c.2593_2628dup (p.Ser877_Glu878insGlyIleSerProCysPheSerSerArgArgSerSer)
NM_000168.6(GLI3):c.2608T>G (p.Cys870Gly)
NM_000168.6(GLI3):c.2624G>A (p.Arg875His)
NM_000168.6(GLI3):c.263A>G (p.Lys88Arg)
NM_000168.6(GLI3):c.2653C>T (p.Arg885Trp)
NM_000168.6(GLI3):c.2711G>A (p.Arg904His)
NM_000168.6(GLI3):c.2714G>C (p.Arg905Pro)
NM_000168.6(GLI3):c.2719A>T (p.Ser907Cys)
NM_000168.6(GLI3):c.2828C>T (p.Thr943Met)
NM_000168.6(GLI3):c.2833C>A (p.Leu945Met)
NM_000168.6(GLI3):c.2844G>A (p.Met948Ile)
NM_000168.6(GLI3):c.2884G>C (p.Asp962His)
NM_000168.6(GLI3):c.2944G>A (p.Gly982Arg) rs751382968
NM_000168.6(GLI3):c.2950G>A (p.Ala984Thr)
NM_000168.6(GLI3):c.2962G>A (p.Gly988Arg)
NM_000168.6(GLI3):c.2965C>T (p.Arg989Trp)
NM_000168.6(GLI3):c.2985C>A (p.His995Gln)
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) rs373643864
NM_000168.6(GLI3):c.3078C>G (p.Ser1026Arg) rs1436522227
NM_000168.6(GLI3):c.3097C>A (p.Pro1033Thr)
NM_000168.6(GLI3):c.3133G>C (p.Val1045Leu)
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.331A>T (p.Met111Leu)
NM_000168.6(GLI3):c.3349C>T (p.Pro1117Ser)
NM_000168.6(GLI3):c.3358A>G (p.Ser1120Gly) rs1787150460
NM_000168.6(GLI3):c.3362_3363delinsCG (p.Lys1121Thr) rs1787150394
NM_000168.6(GLI3):c.3368C>T (p.Pro1123Leu)
NM_000168.6(GLI3):c.3373G>C (p.Gly1125Arg) rs772233504
NM_000168.6(GLI3):c.3374G>A (p.Gly1125Glu)
NM_000168.6(GLI3):c.3383A>G (p.Asp1128Gly)
NM_000168.6(GLI3):c.3392_3397del (p.Ala1131_Pro1132del) rs1787148453
NM_000168.6(GLI3):c.3466A>G (p.Thr1156Ala)
NM_000168.6(GLI3):c.3517TCC[2] (p.Ser1175del)
NM_000168.6(GLI3):c.3534G>C (p.Lys1178Asn)
NM_000168.6(GLI3):c.3548C>T (p.Pro1183Leu)
NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys)
NM_000168.6(GLI3):c.368-3C>T
NM_000168.6(GLI3):c.3712G>A (p.Gly1238Ser)
NM_000168.6(GLI3):c.3761A>G (p.Tyr1254Cys)
NM_000168.6(GLI3):c.3853C>T (p.Pro1285Ser)
NM_000168.6(GLI3):c.3857T>G (p.Met1286Arg) rs1787128835
NM_000168.6(GLI3):c.3859C>G (p.Gln1287Glu)
NM_000168.6(GLI3):c.3892C>G (p.Pro1298Ala)
NM_000168.6(GLI3):c.3917G>A (p.Gly1306Asp)
NM_000168.6(GLI3):c.3946G>C (p.Asp1316His)
NM_000168.6(GLI3):c.3961G>T (p.Gly1321Trp)
NM_000168.6(GLI3):c.39_41del (p.Lys15del)
NM_000168.6(GLI3):c.4021G>T (p.Gly1341Cys)
NM_000168.6(GLI3):c.4029G>C (p.Gln1343His)
NM_000168.6(GLI3):c.4037G>A (p.Gly1346Glu)
NM_000168.6(GLI3):c.4043_4045del (p.Ile1348del)
NM_000168.6(GLI3):c.4064A>G (p.Asn1355Ser)
NM_000168.6(GLI3):c.4066A>T (p.Ile1356Phe)
NM_000168.6(GLI3):c.4105G>A (p.Gly1369Ser)
NM_000168.6(GLI3):c.4144G>C (p.Gly1382Arg)
NM_000168.6(GLI3):c.4165T>C (p.Phe1389Leu)
NM_000168.6(GLI3):c.4181G>T (p.Arg1394Leu)
NM_000168.6(GLI3):c.4234A>T (p.Thr1412Ser)
NM_000168.6(GLI3):c.4247G>T (p.Cys1416Phe)
NM_000168.6(GLI3):c.4267A>T (p.Met1423Leu)
NM_000168.6(GLI3):c.4477A>G (p.Ser1493Gly)
NM_000168.6(GLI3):c.4510A>T (p.Ile1504Phe)
NM_000168.6(GLI3):c.4534G>C (p.Asp1512His)
NM_000168.6(GLI3):c.4543C>A (p.His1515Asn) rs2128704805
NM_000168.6(GLI3):c.4567C>G (p.Leu1523Val)
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) rs1787103191
NM_000168.6(GLI3):c.4610G>C (p.Arg1537Pro)
NM_000168.6(GLI3):c.4660A>G (p.Thr1554Ala)
NM_000168.6(GLI3):c.4675A>G (p.Ile1559Val) rs1583727133
NM_000168.6(GLI3):c.4683C>G (p.Asp1561Glu)
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) rs41305933
NM_000168.6(GLI3):c.473+5G>A rs1784885465
NM_000168.6(GLI3):c.474-3C>T
NM_000168.6(GLI3):c.614G>A (p.Arg205His)
NM_000168.6(GLI3):c.661G>T (p.Gly221Trp)
NM_000168.6(GLI3):c.712T>C (p.Tyr238His)
NM_000168.6(GLI3):c.830C>A (p.Thr277Asn)
NM_000168.6(GLI3):c.925A>G (p.Met309Val)

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